Works matching Achondroplasia


Results: 1088
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    Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03717-0
    By:
    • Fauroux, Brigitte;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Boon, Mieke;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Kunkel, Philip;
    • Madureira, Núria;
    • Maghnie, Mohamad;
    • Milerad, Josef;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Nobili, Lino;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
    By:
    • Guillen-Navarro, Encarna;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Fredwall, Svein;
    • Irving, Melita;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Lausch, Ekkehart;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

    Published in:
    2021
    By:
    • Hoover-Fong, Julie E.;
    • Schulze, Kerry J.;
    • Alade, Adekemi Y.;
    • Bober, Michael B.;
    • Gough, Ethan;
    • Hashmi, S. Shahrukh;
    • Hecht, Jacqueline T.;
    • Legare, Janet M.;
    • Little, Mary Ellen;
    • Modaff, Peggy;
    • Pauli, Richard M.;
    • Rodriguez-Buritica, David F.;
    • Serna, Maria E.;
    • Smid, Cory;
    • Liu, Chengxin;
    • McGready, John
    Publication type:
    journal article
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    Australian guidelines for the management of children with achondroplasia.

    Published in:
    Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290
    By:
    • Tofts, Louise J;
    • Armstrong, Jennifer A;
    • Broley, Stephanie;
    • Carroll, Theresa;
    • Ireland, Penelope J;
    • Koo, Minna;
    • Langdon, Katherine;
    • McGregor, Lesley;
    • McKenzie, Fiona;
    • Mehta, Divyesh;
    • Savarirayan, Ravi;
    • Tate, Tracy;
    • Wesley, Alison;
    • Zankl, Andreas;
    • Jenner, Maree;
    • Eyles, Marta;
    • Pacey, Verity
    Publication type:
    Article
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    Achondroplasia and periodontal disease.

    Published in:
    Journal of Indian Society of Periodontology, 2012, v. 16, n. 1, p. 138, doi. 10.4103/0972-124X.94624
    By:
    • Chawla, Kirti;
    • Lamba, Arundeep Kaur;
    • Faraz, Farrukh;
    • Tandon, Shruti
    Publication type:
    Article
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    What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

    Published in:
    Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
    By:
    • Sforza, Elisabetta;
    • Margiotta, Gaia;
    • Giorgio, Valentina;
    • Limongelli, Domenico;
    • Proli, Francesco;
    • Kuczynska, Eliza Maria;
    • Leoni, Chiara;
    • De Rose, Cristina;
    • Trevisan, Valentina;
    • Romeo, Domenico Marco;
    • Calandrelli, Rosalinda;
    • De Corso, Eugenio;
    • Massimi, Luca;
    • Palmacci, Osvaldo;
    • Rigante, Donato;
    • Zampino, Giuseppe;
    • Onesimo, Roberta
    Publication type:
    Article
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    CORONARY DISEASE AND AORTOPATHY IN ACHONDROPLASIA.

    Published in:
    Medical Review / Medicinski Pregled, 2023, v. 76, n. 9/10, p. 295, doi. 10.2298/MPNS2310295D
    By:
    • DOLAMIĆ, Borislav;
    • DOLAMIĆ, Ana ALADIN;
    • STEFANOVIĆ, Maja;
    • SAMARDŽIJA, Golub;
    • ŠAPONJA, Dragoslava ŽIVKOV;
    • MILOSAVLJEVIĆ, Anastazija STOJŠIĆ
    Publication type:
    Article
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